Autoimmunity, Axial hypotonia, Babinski sign, Basal ganglia cysts, Basal ganglia gliosis, Brain atrophy, Calcification of the aorta, Cardiomegaly, Cerebral calcification, Chilblains, Choreoathetosis, Chronic CSF lymphocytosis, Chronic lymphatic leukemia, Cogwheel rigidity, Cutis marmorata, Degeneration of the striatum, Delayed speech and language development, Demyelinating peripheral neuropathy, Developmental glaucoma, Developmental regression, Developmental stagnation, Diabetes mellitus, Difficulty walking, Dry skin, Dysarthria, Dysphagia, Dystonia, Elevated circulating hepatic transaminase concentration, Enchondroma, Extrapyramidal muscular rigidity, Eyelid coloboma, Failure to thrive, Frequent falls, Gait ataxia, Gait disturbance, Gastroesophageal reflux, Glaucoma, Global developmental delay, Headache, Hemiplegia/hemiparesis, Hemolytic anemia, Hepatosplenomegaly, Hoarse voice, Horizontal pendular nystagmus, Hyperpigmented/hypopigmented macules, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoplasia of the corpus callosum, Hypothyroidism, Increased CSF interferon alpha, Increased serum interferon-gamma level, Infantile muscular hypotonia, Intellectual disability, Intellectual disability, mild, Intellectual disability, profound, Irritability, Large beaked nose, Leukodystrophy, Lipoatrophy, Loss of ability to walk, Loss of speech, Low-set ears, Lower limb muscle weakness, Macular hyperpigmentation, Macular hypopigmentation, Macule, Microcephaly, Micropenis, Moyamoya phenomenon, Multifocal cerebral white matter abnormalities, Multiple joint contractures, Muscle stiffness, Myoclonus, Myositis, Neonatal alloimmune thrombocytopenia, Neurodevelopmental delay, Neurological speech impairment, Nystagmus, Optic atrophy, Panniculitis, Pendular nystagmus, Plagiocephaly, Porencephalic cyst, Prolonged neonatal jaundice, Ptosis, Raynaud phenomenon, Rigidity, Scoliosis, Seizure, Short stature, Small basal ganglia, Spastic paraparesis, Spastic tetraparesis, Spastic tetraplegia, Spasticity, Tetraparesis, Torsion dystonia, Tremor, Undetectable light- and dark-adapted electroretinogram, Unexplained fevers, Upper limb muscle weakness, Ventriculomegaly

absent common myeloid progenitor cells, decreased body length, decreased body size, decreased bone marrow cell number, decreased bone mineral content, decreased circulating glucose level, embryonic growth retardation, embryonic lethality during organogenesis, complete penetrance, hematopoietic system phenotype, impaired hematopoiesis, increased circulating alanine transaminase level, increased circulating alkaline phosphatase level, increased circulating aspartate transaminase level, increased circulating interferon-alpha level, increased circulating lactate dehydrogenase level, increased embryonic tissue cell apoptosis, increased hepatocyte apoptosis, increased sensitivity to induced cell death, increased susceptibility to Orthomyxoviridae infection, increased susceptibility to Paramyxoviridae infection, liver hypoplasia, pale yolk sac, postnatal lethality, complete penetrance, preweaning lethality, complete penetrance, small liver